Associated Papers
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Loss of histone reader Phf7 leads to immune pathways activation via endogenous retroviruses during spermiogenesis.
Cheng J et al.
Iscience, 2023
37920670 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › Sheet1
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Hu H et al.
Medicine, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities.
Du W et al.
Biomed Research International, 2014
Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China.
Yang XL et al.
Acta Oto-laryngologica, 2013
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Pera A et al.
European Journal of Human Genetics : Ejhg, 2008
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Albert S et al.
European Journal of Human Genetics : Ejhg, 2006
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